Template:JAS/AllMutation
Mutation | Effect | Position | Reference |
---|---|---|---|
&&Guo_Z:Inazu_A:Yu_W:Suzumura_T:Okamoto_M:Nohara_A:Higashikata_T:Sano_R:Wakasugi_K:Hayakawa_T:Yoshida_K:Suehiro_T:Schmitz_G:Mabuchi_H:,J_Hum_Genet,2002,47,325&&ABCA1/Mut/2803/A-C&&N935H&&exon19&&Mut/3198/A-C&&N935H&&exon19 &&Guo_Z:Inazu_A:Yu_W:Suzumura_T:Okamoto_M:Nohara_A:Higashikata_T:Sano_R:Wakasugi_K:Hayakawa_T:Yoshida_K:Suehiro_T:Schmitz_G:Mabuchi_H:,J_Hum_Genet,2002,47,325&&ABCA1/Mut/2804/A-G&&N935S&&exon19&&Mut/3199/A-G&&N935S&&exon19 &&Guo_Z:Inazu_A:Yu_W:Suzumura_T:Okamoto_M:Nohara_A:Higashikata_T:Sano_R:Wakasugi_K:Hayakawa_T:Yoshida_K:Suehiro_T:Schmitz_G:Mabuchi_H:,J_Hum_Genet,2002,47,325&&ABCA1/Del/In12-In14/1221bp&&-&&exon13-14 &&Guo_Z:Inazu_A:Yu_W:Suzumura_T:Okamoto_M:Nohara_A:Higashikata_T:Sano_R:Wakasugi_K:Hayakawa_T:Yoshida_K:Suehiro_T:Schmitz_G:Mabuchi_H:,J_Hum_Genet,2002,47,325&&ABCA1/Del/In16-In31/19.9kb&&-&&exon17-31 &&Huang_W:Moriyama_K:Koga_T:Hua_H:Ageta_M:Kawabata_S:Mawatari_K:Imamura_T:Eto_T:Kawamura_M:Teramoto_T:Sasaki_J:,Biochim_Biophys_Acta,2001,1537,71&&ABCA1/Del/3672/CGCC&&R1224fsX15&&exon27&&Del/3787/CGCC&&premature_stop_at_1224&&exon27 &&Huang_W:Moriyama_K:Koga_T:Hua_H:Ageta_M:Kawabata_S:Mawatari_K:Imamura_T:Eto_T:Kawamura_M:Teramoto_T:Sasaki_J:,Biochim_Biophys_Acta,2001,1537,71&&ABCA1/Mut/3685/G-A&&D1229N&&exon27&&Mut/3805/G-A&&D1229N&&exon27 &&Huang_W:Moriyama_K:Koga_T:Hua_H:Ageta_M:Kawabata_S:Mawatari_K:Imamura_T:Eto_T:Kawamura_M:Teramoto_T:Sasaki_J:,Biochim_Biophys_Acta,2001,1537,71&&ABCA1/Mut/6061/C-T&&R2021W&&exon47&&Mut/6181/C-T&&R2021W&&exon47 &&Ishii_J:Nagano_M:Kujiraoka_T:Ishihara_M:Egashira_T:Takada_D:Tsuji_M:Hattori_H:Emi_M:,J_Hum_Genet,2002,47,366&&ABCA1/Mut/5038/C-T&&R1680W&&exon37 &&Maekawa_M:Kikuchi_J:Kotani_K:Nagao_K:Odgerel_T:Ueda_K:Kawano_M:Furukawa_Y:Sakurabayashi_I:,Atherosclerosis,2009,206,216&&ABCA1/Mut/4978/T-C&&C1660R&&exon37 &&Nishida_Y:Hirano_K:Tsukamoto_K:Nagano_M:Ikegami_C:Roomp_K:Ishihara_M:Sakane_N:Zhang_Z:Tsujii_Ki_K:Matsuyama_A:Ohama_T:Matsuura_F:Ishigami_M:Sakai_N:Hiraoka_H:Hattori_H:Wellington_C:Yoshida_Y:Misugi_S:et_al:,Biochem_Biophys_Res_Commun,2002,290,713&&ABCA1/Mut/763/G-A&&A255T&&exon8&&Mut/1158/G-A&&A255T&&exon8 &&Nishida_Y:Hirano_K:Tsukamoto_K:Nagano_M:Ikegami_C:Roomp_K:Ishihara_M:Sakane_N:Zhang_Z:Tsujii_Ki_K:Matsuyama_A:Ohama_T:Matsuura_F:Ishigami_M:Sakai_N:Hiraoka_H:Hattori_H:Wellington_C:Yoshida_Y:Misugi_S:et_al:,Biochem_Biophys_Res_Commun,2002,290,713&&ABCA1/Mut/4831/A-G&&N1611D&&exon36&&Mut/5226/A-G&&N1611D&&exon36 &&Nishida_Y:Hirano_K:Tsukamoto_K:Nagano_M:Ikegami_C:Roomp_K:Ishihara_M:Sakane_N:Zhang_Z:Tsujii_Ki_K:Matsuyama_A:Ohama_T:Matsuura_F:Ishigami_M:Sakai_N:Hiraoka_H:Hattori_H:Wellington_C:Yoshida_Y:Misugi_S:et_al:,Biochem_Biophys_Res_Commun,2002,290,713&&ABCA1/Mut/5551/C-T&&R1851X&&exon39&&Mut/5946/C-T&&R1851X&&exon39 }} |